Variant report

Variant	rs34238140
Chromosome Location	chr5:43317233-43317234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43314912..43317886-chr5:43482528..43484507,2	K562	blood:

Variant related genes	Relation type
ENSG00000151881	Chromatin interaction
ENSG00000249492	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10462049	1.00[EUR][1000 genomes]
rs10941618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13154319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13155023	1.00[AMR][1000 genomes]
rs13155622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13165339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13167052	1.00[AMR][1000 genomes]
rs13168456	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13169908	1.00[AMR][1000 genomes]
rs13174298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13186439	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2290994	0.94[ASN][1000 genomes]
rs34150414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34379498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34497448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34709217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34762186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34880892	1.00[AMR][1000 genomes]
rs34937112	0.89[ASN][1000 genomes]
rs34965256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35142013	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35350677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35748848	1.00[AMR][1000 genomes]
rs35756093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36036217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36062172	1.00[AMR][1000 genomes]
rs36097388	1.00[AMR][1000 genomes]
rs3797152	1.00[AMR][1000 genomes]
rs3806871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71590642	1.00[AMR][1000 genomes]
rs71627597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627599	1.00[AMR][1000 genomes]
rs71627600	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71629106	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv3360596	chr5:43315646-43336665	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43314400-43319200	Weak transcription	Fetal Intestine Large	intestine
2	chr5:43315600-43319600	Weak transcription	K562	blood
3	chr5:43317000-43317800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:43317200-43317400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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